Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objective: The present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.
Methods: We conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC-GS and traditional tests, including CMA and karyotyping. LC-GS was performed with 3X coverage to gauge its proficiency in identifying copy number variations (CNVs), aneuploidies, regions of homozygosity (ROH), and chromosome mosaicism. Data from both methods were compared to evaluate their sensitivity, specificity, and overall clinical utility.
Results: LC-GS at a depth of 3X identified a total of 77 positive samples, yielding a detection rate of 38.5% (77/200). This included 17 cases of aneuploidy, 36 instances of CNVs, 20 cases linked to ROH, and 8 cases of chromosomal mosaicism. LC-GS demonstrated high concordance with CMA in aneuploidy, CNVs, ROH, and chromosomal mosaicism, achieving a diagnostic yield of 21% (42/200), with additional benefits of reduced cost. Moreover, LC-GS outperformed CMA in terms of resolution for identifying submicroscopic CNVs.
Conclusion: LC-GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.6840 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The association between glyphosate use and mosaic loss of chromosome Y in buccal samples among male pesticide applicators in the Agricultural Health Study.
Environ Int
August 2025
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Glyphosate-based herbicides are the most widely applied pesticides worldwide and have been implicated in the development of certain hematologic malignancies; however, the underlying biological mechanisms are not well-understood. High lifetime use of glyphosate-based herbicides, hereafter referred to as glyphosate, was previously associated with mosaic loss of chromosome Y (mLOY), a biomarker of genomic instability potentially linked to cancer and immune dysregulation, in circulating blood of male farmers from a subcohort of the Agricultural Health Study (AHS). Here, we further investigated the association between glyphosate use and mLOY using buccal-derived DNA among 1,868 male pesticide applicators in an independent AHS study.
View Article and Find Full Text PDFDistinct cellular and reproductive consequences of meiotic chromosome synapsis defects in syce2 and sycp1 mutant zebrafish.
PLoS Genet
September 2025
Department of Molecular and Cellular Biology, University of California Davis, Davis, California, United States of America.
The synaptonemal complex (SC) is a meiosis-specific structure that aligns homologous chromosomes and promotes the repair of meiotic DNA double-strand breaks (DSBs). To investigate how defects in SC formation affect gametogenesis in zebrafish, we analyzed mutations in two genes encoding core SC components: syce2 and sycp1. In syce2 mutants, chromosomes exhibit partial synapsis, primarily at sub-telomeric regions, whereas sycp1 mutant chromosomes display early prophase co-alignment but fail to synapse.
View Article and Find Full Text PDFPerformance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases.
Front Mol Biosci
August 2025
Department of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, China.
Background: Non-invasive prenatal testing (NIPT) has demonstrated robust performance in detecting common trisomies and copy number variations. However, its clinical utility for rare chromosomal abnormalities (RCAs) remains controversial due to low positive predictive value (PPV).
Methods: This study retrospectively analyzed the data of 94,125 cases that underwent NIPT at Ganzhou Maternal and Child Health Hospital in China.
Cell-type-specific enrichment of somatic aneuploidy in the mammalian brain.
Neuron
September 2025
Genomic Analysis Laboratory, Salk Institute, La Jolla, CA 92037, USA; Howard Hughes Medical Institute, Salk Institute, La Jolla, CA 92037, USA.
Somatic mutations alter the genomes of a subset of an individual's brain cells, impacting gene regulation and contributing to disease processes. Mosaic single-nucleotide variants have been characterized with single-cell resolution in the brain, but we have limited information about large-scale structural variation such as whole-chromosome duplication or loss. We used a dataset of over 415,000 single-cell DNA methylation and chromatin conformation profiles from the adult mouse brain to comprehensively identify and characterize aneuploid cells.
View Article and Find Full Text PDFCHIP ahoy: charting a decade of discovery in clonal hematopoiesis.
Haematologica
September 2025
Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada; Department of Medicine, Queen's University, Kingston, ON.
Clonal hematopoiesis (CH) involves the expansion of hematopoietic stem cells with ageacquired mutations linked to myeloid malignancy. Advances in next-generation and single-cell sequencing, along with computational modeling, have expanded our ability to detect both common and rare CH drivers, including single-nucleotide variants and mosaic chromosomal alterations, with increasing sensitivity. While sequencing methods differ in accuracy, cost, and ability to detect low-frequency variants, they have deepened our understanding of CH biology.
View Article and Find Full Text PDF